GPR143 Gene Summary [Human]
This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]
Details
| Type | Protein Coding |
| Official Symbol | GPR143 |
| Official Name | G protein-coupled receptor 143 [Source:HGNC Symbol;Acc:HGNC:20145] |
| Ensembl ID | ENSG00000101850 |
| Bio databases IDs | |
| Aliases | G protein-coupled receptor 143, ocular albinism 1 |
| Synonyms | G protein-coupled receptor 143, NYS6, OA1, RGD1565799 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GPR143 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- third intracellular loop
- binding protein
- neuropeptide receptor
- Ocular albinism type 1 protein
- protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- amino acid binding
Pathways
Biological processes and signaling networks where the GPR143 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- Nettleship-Falls type ocular albinism
- X-linked congenital nystagmus 6
- colorectal cancer
- GPR143-related foveal hypoplasia
- albinism
- melanoma cancer
- alveolar soft part sarcoma
- soft tissue sarcoma cancer
- melanoma
role in cell
- maturation
- localization
- size
- biogenesis
- abnormal morphology
- biogenesis in
- organization
- maturation in
- composition
- transport
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell junction
- Cytoplasm
- perinuclear region
- membrane surface
- cellular membrane
- lysosome
- Golgi Apparatus
- granules
- cisternae
- apical membrane
- lysosome membrane
- nucleoplasm
- nuclear bodies
- melanosomes
- multivesicular bodies
- melanosomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GPR143 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- eye pigment biosynthetic process
- neuropeptide signaling pathway
- melanosome organization
- G-protein coupled receptor signaling pathway
- signal transduction
- melanosome localization
- regulation of calcium-mediated signaling
- phospholipase C-activating G-protein coupled receptor signaling pathway
- visual perception
- melanosome transport
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- cytoplasm
- melanosome
- membrane
- Golgi apparatus
- lysosomal membrane
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- G-protein coupled receptor activity
- protein binding
- dopamine binding
- tyrosine binding
- L-DOPA binding
- L-DOPA receptor activity